Clinical trials: Primary Mitochondrial Diseases
Primary Mitochondrial Diseases
A First in Human Study to Evaluate the Safety of Infusion of MNV-BM-PLC (Autologous CD34+ Cells Enriched With Placenta Derived Allogeneic Mitochondria) in Patients With Primary Mitochondrial Diseases Associated With Mitochondrial DNA Mutation or Deletion
The study objectives are to evaluate the safety of a single intravenous (IV) infusion of autologous CD34+ cells enriched with placenta-derived allogeneic mitochondria in participant with primary mitochondrial disease associated…
- Trial name
- NCT04548843
- Testing
- Bone Marrow mobilization, Apheresis, MNV-BM-PLC infusion
- Where
- Israel
- Sponsor
- Minovia Therapeutics Ltd.
MELAS Syndrome, Lebers Hereditory Optic Neuropathy With Extra Ocular Symptoms (LHON-Plus)
A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus)
This is a parallel arm non-randomized dose-escalation, open-label basket exploratory phase 1 clinical trial where Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS) and Leber's hereditary optic…
- Trial name
- NCT06792500
- Testing
- Glycerol Tributyrate
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- George Washington University
Primary Mitochondrial Disease
Neurometabolic Profile of Individuals With Primary Mitochondrial Disease
Primary Mitochondrial Disease (PMD) is a genetic neurometabolic disorder, leading to central nervous system degeneration and increased risk of early mortality.
- Trial name
- NCT06890520
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Primary Mitochondrial Myopathy
A Study to Evaluate ASP0367 in Participants With Primary Mitochondrial Myopathy
The purpose of this study was to evaluate the dose response of Bocidelpar on functional improvement relative to placebo, safety, and tolerability in participants with Primary Mitochondrial Myopathy.
- Trial name
- MOUNTAINSIDE (NCT04641962)
- Testing
- Bocidelpar
- Where
- 11 sites in United States
- Volunteers
- 34 people
- Sponsor
- Astellas Pharma Inc
Primary Open-Angle Glaucoma (POAG)
MEXIDOL® Sequential Therapy of Patients With Primary Open-angle Glaucoma (POAG)
Hypothesis: The use of neurocytoprotectors helps restore the functional activity of mitochondria, improve the nervous activity of the retina and optic nerve, and stabilize the glaucomatous process.
- Trial name
- NCT06437639
- Testing
- Mexidol
- Where
- Russia
- Volunteers
- 80 people
- Sponsor
- Pharmasoft
Ataxia Telangiectasia
Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With Nicotinamide Riboside
Study design: Single arm open-label clinical trial in ataxia-telangiectasia to test the effects of nicotinamide riboside on ataxia scales, immune function, and neurofilament light chain.
- Trial name
- ATNAD (NCT06324877)
- Testing
- Nicotinamide riboside
- Where
- Australia
- Volunteers
- 10 people
- Sponsor
- The University of Queensland
Postural Tachycardia Syndrome
Phenotyping Mitochondrial and Immune Dysfunction in POTS With Targeted Clinical Intervention.
The mechanisms underlying POTS are not well understood. Though heterogeneous in nature, patients often present with symptoms that include fatigue, orthostatic lightheadedness and tachycardia, "brain fog", shortness of breath, and…
- Trial name
- NCT05409651
- Testing
- Time restricted eating
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- University of California, San Diego
Migraine Disorders, Headache Disorders
Idebenone for the Preventive Treatment of Migraine
Idebenone improves energy metabolism similarly to Coenzyme Q10, which is effective in migraine prophylaxis. The investigators compare idebenone (90 mg/day, 270 mg/day) and placebo in 180 migraine patients in a double-blind…
- Trial name
- NCT04151472
- Testing
- 90mg Idebenone, 270mg Idebenone
- Where
- China
- Volunteers
- 180 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Multiple Sclerosis
Assessing the Role of Mitochondrial Dysfunction in Primary Progressive Multiple Sclerosis
The purpose of this project is to study genetic determinants of mitochondrial impairment in primary progressive multiple sclerosis.
- Trial name
- NCT06025903
- Where
- 2 sites in Italy
- Volunteers
- 140 people
- Sponsor
- IRCCS San Raffaele
Respiratory Tract Infections (RTI), Meningitis
Immune-Mitochondrial Correction in Military Recruits
The goal of this clinical trial is to learn if a new immune-mitochondrial correction strategy works better than standard vitamins to prevent infections in young male military recruits during their first 6 months of service.
- Conditions
- Respiratory Tract Infections (RTI), Meningitis, Primary Prevention/Methods, Primary Prevention
- Trial name
- IMMU-MITO (NCT07622147)
- Testing
- Multivitamin/Mineral supplements, Sodium nucleinate combination
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- MIPO Clinic
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Primary Mitochondrial Disease
Safety, Tolerability, Efficacy of MTP-131 for Treatment of Mitochondrial Disease in Subjects From the MMPOWER Study
This randomized, double-blind, placebo-controlled, crossover study screened 32 subjects with primary mitochondrial myopathy (PMM) to evaluate the safety, tolerability, pharmacokinetics (PK), and efficacy of subcutaneous…
- Trial name
- MMPOWER-2 (NCT02805790)
- Testing
- Elamipretide
- Where
- 4 sites in United States
- Volunteers
- 30 people
- Sponsor
- Stealth BioTherapeutics Inc.
Healthy, Obesity
Metabolic Phenotyping in Humans
Type 2 diabetes (T2D) is a global burden disease affecting almost 200 million people and is expected to nearly double by 2030 (1).
- Conditions
- Healthy, Obesity, Type 2 Diabetes Mellitus
- Trial name
- MetPhe (NCT01298375)
- Where
- Netherlands
- Volunteers
- 132 people, healthy volunteers welcome
- Sponsor
- Maastricht University Medical Center
Thymidine Kinase 2 Deficiency
A Retrospective Study of Subjects With Thymidine Kinase 2 Deficiency
This is a multicenter, multinational, retrospective chart-review study to evaluate survival in patients with Thymidine Kinase 2 deficiency (TK2d).
- Trial name
- NCT05017818
- Testing
- Observational retrospective data
- Where
- 12 sites in United States, Russia and 2 more
- Volunteers
- 61 people
- Sponsor
- Zogenix MDS, Inc.
Mitochondrial Diseases, Myalgic Encephalomyelitis Chronic Fatigue Syndrome
The Precision Mito- Mito Map COMPASS Study
Mito Map is a research tool that produces an Energy Score from information provided by a participant. This remote observational study has an initial enrollment target of 400 adults across seven prespecified cohorts: healthy…
- Conditions
- Mitochondrial Diseases, Myalgic Encephalomyelitis Chronic Fatigue Syndrome, Post-COVID-19 Condition, Postural Orthostatic Tachycardia Syndrome
- Trial name
- COMPASS (NCT07856121)
- Testing
- Mito Map Energy Score and Home Functional Assessments
- Where
- United States
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- AI Agent Vault, Inc. d/b/a Precision Mito
PolG, Primary Mitochondrial Myopathy
Mitochondrial Video Assessment Source Material Study
Source material collection of videos to develop the Mitochondrial Video Assessment (MVA) for patients with mitochondrial myopathies.
- Trial name
- NCT06180421
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- The Emmes Company, LLC
Migraine
Safety and Efficacy of Oral Idebenone for Preventive Treatment of Migraine in Adult Migraine Patients
This is a multi-center, prospective, double-blind randomized controlled trial on a sample of patients with migraine. Subjects will only be enrolled when a physician or research assistant who is familiar with the study protocol is…
- Trial name
- NCT05411978
- Testing
- Idebenone
- Where
- China
- Volunteers
- 900 people, healthy volunteers welcome
- Sponsor
- Beijing Tiantan Hospital
Primary Open Angle Glaucoma
How Does Your Genetic Make-up (Profile) Influence Your Glaucoma?
Glaucoma is a group of diseases in which visual loss occurs because of damage to the optic nerve. Research has shown that certain genes may cause glaucoma in some cases.
- Trial name
- NCT00626847
- Where
- United States
- Volunteers
- 97 people, healthy volunteers welcome
- Sponsor
- Wills Eye
Energy Metabolism, Metabolic Syndrome
Energy Metabolism in Branched-chain Organic Acidemias
Energy metabolism and insulin sensitivity were assessed in a case-control study in patients with branched-chain organic acidemias.
- Conditions
- Energy Metabolism, Metabolic Syndrome, Insulin Resistance
- Trial name
- NCT03917212
- Testing
- No intervention
- Where
- 2 sites in Germany
- Volunteers
- 57 people, healthy volunteers welcome
- Sponsor
- German Diabetes Center
Mitochondrial Diseases, Mitochondrial Respiratory Chain Deficiencies
A Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial Disease
This will be a double blind, randomised, placebo controlled, single and multiple oral dose study conducted in 3 parts: Part A, Part B and Part C.
- Conditions
- Mitochondrial Diseases, Mitochondrial Respiratory Chain Deficiencies, MELAS Syndrome, Mitochondrial Myopathies
- Trial name
- NCT03888716
- Testing
- KL1333
- Where
- 2 sites in United Kingdom
- Volunteers
- 72 people, healthy volunteers welcome
- Sponsor
- Abliva AB